Interferon gamma receptor 2
Interferon gamma receptor 2 also known as IFN-γR2 is a protein which in humans is encoded by the IFNGR2 gene.[1]
| interferon gamma receptor 2 (interferon gamma transducer 1) | |
|---|---|
| Identifiers | |
| Symbol | IFNGR2 |
| Alt. symbols | IFNGT1 |
| NCBI gene | 3460 |
| HGNC | 5440 |
| OMIM | 147569 |
| RefSeq | NM_005534 |
| UniProt | P38484 |
| Other data | |
| Locus | Chr. 21 q22.1 |
Function
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a multimer of two IFN-γR1 chains (encoded by IFNGR1) and two IFN-γR2 chains.[2]
Clinical significance
Defects in IFNGR2 are a cause of autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection.[3] All known mutations in IFNGR2 are collected in the IFNGR2 mutation database [4].
gollark: Imagine preordering.
gollark: What perfect and without flaw financial planning.
gollark: No.
gollark: I'm not sure you're correct.
gollark: That's a picture of America.
References
- Luster AD, Weinshank RL, Feinman R, Ravetch JV (August 1988). "Molecular and biochemical characterization of a novel gamma-interferon-inducible protein". J. Biol. Chem. 263 (24): 12036–43. PMID 3136170.
- "Entrez Gene: IFNGR2".
- Al-Muhsen S, Casanova JL (December 2008). "The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases". J. Allergy Clin. Immunol. 122 (6): 1043–51, quiz 1052–3. doi:10.1016/j.jaci.2008.10.037. PMID 19084105.
- https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=IFNGR2
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.